Rare Disease Awareness Day - Gaucher Disease

26/02/2015 17:23
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Updated
25 April 2015

Elaine Benton
Author and blogger battling two chronic diseases while maintaining a positive attitude and sense of humor

Every year, the last day of February, is 'Rare Disease Awareness Day', which was first launched in 2008. How could I miss this opportunity to further spread the word about a rare disease I was born with? When I think back to my childhood, in particular school days, I remember constantly being told off by teachers for talking too much in class. I wonder what they'd say if they knew what keeps me so occupied these days. Campaigning for greater understanding, offering support to fellow sufferers and caregivers, I am constantly writing and attending public speaking engagements. In other words, it's hard to shut me up!!! My ability to talk, which got me into such trouble as a young school girl, today is my greatest strength. Public speaking allows me the capability to convey my message to doctors, those working in the field of Gaucher disease and fellow patients from around the world. Great leaps and bounds have been made in recent years in respect to diagnosis, treatment and understanding Gaucher disease, but there is no room for complacency, for we still have much to do.

Now at the age of 51, living with Gaucher disease, I have become a strong advocate concerned with bringing greater awareness to this rare genetic disorder. I wear two hats so to speak, for apart from being born with Gaucher disease, at the age of 44, I was diagnosed with Young On-set Parkinson's. I don't seem to do anything by halves! The Parkinson's exacerbates the Gaucher, and dyskinesia with its jerky movements plays havoc with my hips and knee joints. However, I wear a smile as my shield, maintain a sense of humour for a coat of armour, and a strong fighting spirit is my sword. This is how I battle each day with two diseases; one rare and one extremely common. My life is no picnic, but one thing for sure, it's not dull!

My husband and I recently attended a three day educational meeting in Europe about Gaucher disease. My husband spoke from the caregivers perspective, which is not often heard, but crucially portrays what it's really like to take care of a loved one who is chronically ill. So often, the role of 'caregiver' is overlooked, and I was glad my husband had the opportunity to share his unique story. My talk gave an insight as to what it's like to suffer from Gaucher along with Parkinson's disease. Speaking candidly about my personal experiences of growing up with a rare disease, the audience heard first hand a true account, giving Gaucher disease, a face, a name and a personal story. There is nothing more compelling than hearing a patient's narrative in person.

The international meeting was attended by doctors from around the world who treat Gaucher patients, in the hope of increasing their knowledge and contributing information. It was a great opportunity to bring along challenging cases, to hear further opinions from specialists in the field. With so many experts present it became an excellent forum for brainstorming, sparking new ideas through lively discussion and sharing expertise. It was a very interesting meeting, touching on many aspects that affect Gaucher patients, including discussion on all Gaucher Types 1, 2 and 3.

At such meetings, for me personally, it's always exciting to meet fellow sufferers from other countries. There were several patients with Type 3, but unfortunately they didn't speak English, and determined to introduce myself, I ended up communicating with a mixture of signs and charades. I believe they understood what I was trying to convey, for my attempts were met with delighted warm smiles.

Tremendous progress has been made over the years, regarding early diagnosis, information and advice, and for some rare diseases, treatment is now available. It is thanks to those who dedicate their lives and professional careers to a specific rare disorder such as Gaucher, that make a real and lasting difference to people like me and my family. Please help me by sharing this article to spread the word about "Rare Disease Awareness Day". THANK YOU!http://www.elainebenton.net/